Refractory nephrotic syndrome in focal and segmental glomerulosclerosis by pmm2 genetic variant

Introduction: Nephrotic syndrome (NS) is a clinical condition charac terized by massive proteinuria, edema, hypoalbuminemia, and hyper lipidemia. The etiology may be secondary to systemic, metabolic, infectious, neoplastic, and pharmacological diseases. There is a group of primary causes of unknown etiology whose pathophysiological mech anism is immunological whose most frequent histological pattern in adults is focal segmental glomerulosclerosis (FSGS), minimal change disease and membranous nephropathy that represent podocithopathies. Currently, the KDIGO guidelines add that FSGS may have a genetic etiology, which merits a different diagnostic and therapeutic approach due to its refractoriness to immunosuppressive management, deter mining the causative gene is of great importance to predict its relapse in transplantation. A diversity of genes contributing to podocitopathies (NEPH1, TRPC6, CRB2, FAT1) located in the diaphragm slit has been highlighted, but very few cases have been reported with the PMM2 genetic variant.

• Autores: Dulce M., Jaime Arturo; Conde, Juan; Aroca, Gustavo
• Fecha de publicación: 2025
• Institución: Universidad Simón Bolívar
• Repositorio: Repositorio Digital USB
• Idioma: eng
• OAI Identifier: oai:bonga.unisimon.edu.co:20.500.12442/16244
• Acceso en línea: https://hdl.handle.net/20.500.12442/16244; https://www.kireports.org/article/S2468-0249(24)03033-X/fulltext
• Rights: openAccess
• License: Attribution-NonCommercial-NoDerivs 3.0 United States